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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:hepatic encephalopathy
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Accession:DOID:13413 term browser browse the term
Definition:A brain disease that is characterized by loss of brain function, the occurrence of confusion, altered level of consciousness, and coma that results when the liver is unable to remove toxins from the blood. (DO)
Synonyms:exact_synonym: Fulminant Hepatic Failure with Cerebral Edema;   Hepatic Stupor;   Hepatic Stupors;   Hepatocerebral Encephalopathies;   Hepatocerebral Encephalopathy;   Portal Systemic Encephalopathy;   Portal-Systemic Encephalopathies;   Portosystemic Encephalopathies;   hepatic encephalopathies;   portosystemic encephalopathy
 primary_id: MESH:D006501
 xref: GARD:10452;   ICD10CM:K72;   ICD10CM:K76.82;   ICD9CM:572.2;   NCI:C79596
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
hepatic encephalopathy term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1b ATP-binding cassette, sub-family B member 1B IEP associated with Hypertension, Portal RGD PMID:24382264 RGD:10395388 NCBI chr 4:26,197,706...26,280,156
Ensembl chr 4:26,106,903...26,279,567 		JBrowse link
G Ccl2 C-C motif chemokine ligand 2 IEP mRNA,protein:increased expression:brain, liver,serum: RGD PMID:29518527 RGD:14995926 NCBI chr10:67,503,077...67,504,875
Ensembl chr10:67,503,077...67,504,875 		JBrowse link
G Epor erythropoietin receptor IEP associated with Hypertension, Portal RGD PMID:24382264 RGD:10395388 NCBI chr 8:28,765,738...28,770,371
Ensembl chr 8:28,765,746...28,770,322 		JBrowse link
G G6pd glucose-6-phosphate dehydrogenase IEP protein:increased expression:cerebellum RGD PMID:20405262 RGD:10449131 NCBI chr  X:157,352,364...157,372,144
Ensembl chr  X:157,352,373...157,372,144 		JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 IEP
ISO 		mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:15929193 PMID:15929193 RGD:6480237 NCBI chr10:27,096,731...27,152,563
Ensembl chr10:27,096,740...27,152,442 		JBrowse link
G Gabrb1 gamma-aminobutyric acid type A receptor subunit beta1 IEP
ISO 		mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:15929193 PMID:15929193 RGD:6480237 NCBI chr14:36,434,339...36,917,920
Ensembl chr14:36,434,352...36,902,893 		JBrowse link
G Gabrg2 gamma-aminobutyric acid type A receptor subunit gamma 2 IEP
ISO 		mRNA:increased expression:brain
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:15929193 PMID:15929193 RGD:6480237 NCBI chr10:26,876,926...26,965,523
Ensembl chr10:26,876,926...26,965,523 		JBrowse link
G Gc GC, vitamin D binding protein ISO CTD Direct Evidence: marker/mechanism CTD
RGD		 PMID:11510020 PMID:11521994 RGD:5509929 NCBI chr14:18,916,255...18,951,670
Ensembl chr14:18,916,246...18,951,673 		JBrowse link
G Glud1 glutamate dehydrogenase 1 IEP mRNA:decreased expression:brain RGD PMID:2903433 RGD:6484661 NCBI chr16:9,646,569...9,680,215
Ensembl chr16:9,646,509...9,680,210 		JBrowse link
G Glul glutamate-ammonia ligase ISO CTD Direct Evidence: marker/mechanism CTD PMID:10564534 NCBI chr13:68,519,500...68,585,554
Ensembl chr13:68,576,067...68,585,520 		JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 IEP protein:decreased expression:hippocampus, synaptosome (rat) RGD PMID:19450629 RGD:4108489 NCBI chr10:41,710,540...42,030,105
Ensembl chr10:41,711,080...42,030,309 		JBrowse link
G Hif1a hypoxia inducible factor 1 subunit alpha IEP associated with Hypertension, Portal RGD PMID:24382264 RGD:10395388 NCBI chr 6:98,357,788...98,405,068
Ensembl chr 6:98,359,910...98,405,323 		JBrowse link
G Hmox1 heme oxygenase 1 treatment IEP RGD PMID:23670786 RGD:10766445 NCBI chr19:13,452,365...13,479,823
Ensembl chr19:13,472,884...13,479,818 		JBrowse link
G Insr insulin receptor IEP protein:decreased expression:hippocampus, cerebral cortex (rat) RGD PMID:28505381 RGD:14700777 NCBI chr12:5,991,135...6,129,275
Ensembl chr12:5,981,835...6,128,803 		JBrowse link
G Lta lymphotoxin alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:9696492 NCBI chr20:3,622,291...3,625,852
Ensembl chr20:3,623,527...3,625,533 		JBrowse link
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:9048767 PMID:10206825 PMID:10564534 NCBI chr  X:8,615,239...8,681,372
Ensembl chr  X:8,615,239...8,682,631 		JBrowse link
G Maob monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:10564534 NCBI chr  X:8,490,405...8,594,065
Ensembl chr  X:8,490,344...8,594,375 		JBrowse link
G Nos1 nitric oxide synthase 1 IEP
ISO 		protein:increased expression:neocortex
protein:increased expression:brain
CTD Direct Evidence: marker/mechanism 		CTD
RGD		 PMID:10206825 PMID:10564534 PMID:17083474 PMID:19763802 RGD:1642151, RGD:5132590 NCBI chr12:44,276,011...44,456,371
Ensembl chr12:44,287,614...44,371,837 		JBrowse link
G Nos2 nitric oxide synthase 2 IEP protein:increased expression:brain RGD PMID:19763802 RGD:5132590 NCBI chr10:64,313,335...64,349,221
Ensembl chr10:64,313,335...64,401,880 		JBrowse link
G Oprm1 opioid receptor, mu 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11991257 NCBI chr 1:45,565,371...45,818,722
Ensembl chr 1:45,565,371...45,638,756 		JBrowse link
G Prkdc protein kinase, DNA-activated, catalytic subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:21224054 NCBI chr11:98,544,952...98,762,499
Ensembl chr11:98,544,954...98,762,108 		JBrowse link
G Ptgs1 prostaglandin-endoperoxide synthase 1 IMP RGD PMID:21575628 RGD:5688266 NCBI chr 3:39,981,419...40,002,993
Ensembl chr 3:39,981,415...40,002,990 		JBrowse link
G S100b S100 calcium binding protein B ISO CTD Direct Evidence: marker/mechanism CTD PMID:34792689 NCBI chr20:12,372,345...12,381,159
Ensembl chr20:12,372,348...12,381,081 		JBrowse link
G Tgfb1 transforming growth factor, beta 1 treatment ISO RGD PMID:30940161 RGD:14995440 NCBI chr 1:90,324,312...90,340,627
Ensembl chr 1:90,324,046...90,340,899 		JBrowse link
G Tnf tumor necrosis factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:9696492 PMID:16338762 NCBI chr20:3,626,685...3,629,303
Ensembl chr20:3,626,532...3,629,303 		JBrowse link
G Tspo translocator protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:10206825 PMID:10564534 NCBI chr 7:116,600,214...116,610,461
Ensembl chr 7:116,600,210...116,610,460 		JBrowse link
combined oxidative phosphorylation deficiency 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gfm1 G elongation factor, mitochondrial 1 ISO ClinVar Annotator: match by term: GFM1-related condition | ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
CTD Direct Evidence: marker/mechanism 		OMIM
ClinVar
CTD		 PMID:9536098 PMID:15537906 PMID:16199547 PMID:16632485 PMID:17160893 More... NCBI chr 2:154,010,601...154,055,523
Ensembl chr 2:154,010,614...154,065,805 		JBrowse link
G Gfm2 GTP dependent ribosome recycling factor mitochondrial 2 ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:25741868 PMID:28492532 PMID:29075935 NCBI chr 2:30,184,063...30,222,811
Ensembl chr 2:30,184,115...30,222,806 		JBrowse link
G Mrpl44 mitochondrial ribosomal protein L44 ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:25741868 NCBI chr 9:88,555,050...88,560,101
Ensembl chr 9:88,555,019...88,561,215 		JBrowse link
G Mrps22 mitochondrial ribosomal protein S22 ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:25741868 NCBI chr 8:108,063,468...108,076,638
Ensembl chr 8:108,063,471...108,076,638 		JBrowse link
G Nars2 asparaginyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:25741868 NCBI chr 1:160,711,680...160,823,311
Ensembl chr 1:160,711,696...160,827,606 		JBrowse link
G Vars2 valyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 ClinVar PMID:25741868 NCBI chr20:3,077,132...3,087,994
Ensembl chr20:3,081,893...3,092,901 		JBrowse link
mitochondrial DNA depletion syndrome 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mpv17 mitochondrial inner membrane protein MPV17 ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) ClinVar PMID:16582910 PMID:16909392 PMID:17694548 PMID:19520594 PMID:23714749 More... NCBI chr 6:30,941,693...30,956,389
Ensembl chr 6:30,943,356...30,956,386 		JBrowse link
G Tfam transcription factor A, mitochondrial ISO ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 15 (hepatocerebral type) | ClinVar Annotator: match by term: TFAM-related condition OMIM
ClinVar		 PMID:25741868 PMID:27448789 PMID:28492532 NCBI chr20:17,355,373...17,367,422
Ensembl chr20:17,355,363...17,369,877 		JBrowse link
mitochondrial DNA depletion syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dguok deoxyguanosine kinase ISO
IMP 		ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 3 | ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 3 (hepatocerebral type) OMIM
ClinVar
RGD		 PMID:9175742 PMID:9536098 PMID:11687800 PMID:11983456 PMID:12205643 More... RGD:15039296, RGD:15039214 NCBI chr 4:117,544,784...117,572,414
Ensembl chr 4:117,544,773...117,572,414 		JBrowse link
G Mpv17 mitochondrial inner membrane protein MPV17 ISS OMIM:251880 MouseDO NCBI chr 6:30,941,693...30,956,389
Ensembl chr 6:30,943,356...30,956,386 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    syndrome 11431
      hepatic encephalopathy 35
        combined oxidative phosphorylation deficiency 1 6
        hepatic coma 0
        mitochondrial DNA depletion syndrome 15 2
        mitochondrial DNA depletion syndrome 3 2
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      gastrointestinal system disease 7168
        hepatobiliary disease 3079
          liver disease 2964
            Hepatic Insufficiency 160
              Liver Failure 152
                hepatic encephalopathy 35
                  combined oxidative phosphorylation deficiency 1 6
                  hepatic coma 0
                  mitochondrial DNA depletion syndrome 15 2
                  mitochondrial DNA depletion syndrome 3 2
paths to the root